ELIXIR Slovenia actively participates in the ELIXIR Human Copy Number Variations (hCNV) community. We have recently co-authored a paper that outlines our work programme and has been published in the F1000Research journal. The paper defines seven strategic objectives of the hCNV community: pipelines for CNV detection, definition of reference datasets, data exchange formats, use of Beacon and Phenopackets to find similarities between cases, creation of new tools, FAIRification, and dissemination activities.
Copy Number Variations represent the most common type of genetic mutations associated with human diseases. However, the identification and interpretation of CNVs is still a major challenge. The seven strategic objectives described in the F1000 paper represent the means to address this challenge. The hCNV community has already been working on these objectives in the framework of the first Implementation Study, which kicked-off in June 2019.
Besides these objectives, the paper outlines interactions and links with other ELIXIR Communities and Platforms (e.g. with the Data Platform and the Interoperability Platform). The ELIXIR Data Platform will support the creation of deposition databases for CNV data and the Interoperability Platform will support the development of recommendations for CNV reporting formats.